Last reviewed: 25 Oct 2020
Last updated: 30 Jan 2019

Summary

Definition

History and exam

Key diagnostic factors

  • simultaneous contraction of agonist and antagonist muscles
  • muscle pain
  • appearance or worsening of dystonia with action
  • blepharospasm
  • cervical torticollis
  • hand spasms
  • foot spasms

Other diagnostic factors

  • twisting of the affected body part
  • geste antagoniste (sensory trick)
  • spread to another body part
  • parkinsonism
  • myoclonus
  • tremor, weakness, or spasticity
  • reflex sympathetic dystrophy
  • Kayser-Fleischer rings on slit-lamp examination
  • acute presentation (within 5 days of exposure to antidopaminergic agent)
  • acute worsening of pre-existing generalized dystonia

Risk factors

  • family history of dystonia
  • repetitive activity of affected region
  • birth injury and delayed development in childhood
  • exposure to antidopaminergic agents
  • trauma
  • genetic mutation
  • Ashkenazi Jewish ethnicity
  • structural lesion of the basal ganglia
  • parkinsonian syndrome

Diagnostic investigations

Investigations to consider

  • cranial magnetic resonance imaging
  • serum ceruloplasmin
  • 24-hour urine copper
  • DYT1 gene testing
  • GCH1 gene testing
More investigations to consider

Treatment algorithm

Contributors

Associate Professor of Neurology

Parkinson's Disease and Movement Disorders Center

Beth Israel Deaconess Medical Center

Boston

MA

Disclosures

SF is employed by the Beth Israel Deaconess Medical Center, which has received funding from Allergan to support partial fellowship training.

Dr Samuel Frank would like to gratefully acknowledge Dr Ludy C. Shih, Dr David K. Simon, and Dr Daniel Tarsy, previous contributors to this topic.

Disclosures

LCS is now an employee of Biogen, Inc. and has received funding from the NIH Dystonia Coalition project for participant enrollment. DKS has received consulting fees from the Gerson Lehrman Group. DKS is an author of a reference cited in this topic. DT has received an unrestricted grant from Allergan and Medtronic being used for education. He received unrestricted funds for patient education from Allergan, Boehringer Ingelheim, Valeant, and Teva Neurosciences. He has received research funds from Solvay and Neurogen. DT is an author of a number of references cited in this topic.

Peer reviewersVIEW ALL

Reader in Clinical Neurology

Honorary Consultant

Institute of Neurology

National Hospital for Neurology and Neurosurgery

London

UK

Disclosures

PDL declares that she has no competing interests.

Assistant Professor

Director

Movement Disorder Center

Dept of Neurology

University of Florida

Tampa

FL

Disclosures

ZH has been a consultant for Allergan and a speaker for Novartis and TEVA.

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